Variant report

Variant	rs4499391
Chromosome Location	chr2:186447604-186447605
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10084180	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10186680	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10195783	1.00[EUR][1000 genomes]
rs10803986	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10803987	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10803989	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931179	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931195	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10931199	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1116602	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11673741	1.00[EUR][1000 genomes]
rs11887570	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11900568	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11903586	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12468005	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12620350	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12693410	0.91[EUR][1000 genomes]
rs12693412	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13002717	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13020956	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1345933	1.00[EUR][1000 genomes]
rs1424525	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1424526	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1424527	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1424538	1.00[EUR][1000 genomes]
rs1477455	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1477457	0.91[EUR][1000 genomes]
rs2193614	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2193820	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2194508	0.91[EUR][1000 genomes]
rs2370391	1.00[EUR][1000 genomes]
rs2370469	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2370472	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4265972	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4575687	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4667053	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6434142	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6706525	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6713566	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6758484	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6761586	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7565425	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7566568	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7567961	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7576532	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7576818	1.00[EUR][1000 genomes]
rs7592234	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7602278	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7606681	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7607020	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs763329	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs991327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459982	chr2:186213755-186475590	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv584012	chr2:186213755-186475590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875527	chr2:186272059-186475590	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875528	chr2:186301351-186475590	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1004048	chr2:186303297-186541503	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv875530	chr2:186303530-186475590	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875531	chr2:186303530-186489537	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv875535	chr2:186309738-186458903	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv875534	chr2:186309738-186475590	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv875536	chr2:186309738-186504175	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv875539	chr2:186345148-186475590	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv875540	chr2:186345148-186583961	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv875541	chr2:186345148-186598526	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1006219	chr2:186352780-186524793	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv584017	chr2:186352959-186515328	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv584018	chr2:186352959-186598526	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv916442	chr2:186356363-186534152	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv875543	chr2:186365918-186489537	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv1000814	chr2:186391490-186520872	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv875544	chr2:186396639-186458903	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv1007052	chr2:186441382-186864390	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv584019	chr2:186445393-186866874	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186436000-186452200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:186446400-186449600	Enhancers	HMEC	breast
3	chr2:186446400-186451600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:186446600-186448400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:186447400-186448800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr2:186447400-186448800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:186447400-186448800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:186447400-186448800	Enhancers	NHEK	skin
9	chr2:186447400-186449000	Enhancers	Hela-S3	cervix
10	chr2:186447600-186447800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:186447600-186448200	Enhancers	Stomach Mucosa	stomach
12	chr2:186447600-186448600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr2:186447600-186449000	Enhancers	HSMM	muscle

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